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Items: 1 to 20 of 95

1.

rs1485131570 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    4:56655987 (GRCh38)
    4:57522153 (GRCh37)
    Canonical SPDI:
    NC_000004.12:56655986:G:A
    Gene:
    HOPX (Varview), LOC124900708 (Varview)
    Functional Consequence:
    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000014/2 (GnomAD)
    A=0.000026/7 (TOPMED)
    HGVS:
    NC_000004.12:g.56655987G>A, NC_000004.11:g.57522153G>A, NG_050687.1:g.30720C>T, NM_032495.6:c.68C>T, NM_032495.5:c.68C>T, NM_139211.5:c.14C>T, NM_139211.4:c.14C>T, NM_139212.4:c.14C>T, NM_139212.3:c.14C>T, NM_001145460.2:c.68C>T, NM_001145460.1:c.68C>T, NM_001145459.2:c.14C>T, NM_001145459.1:c.14C>T, XM_017008729.3:c.128C>T, XM_017008729.2:c.128C>T, XM_017008729.1:c.14C>T, XM_017008731.3:c.14C>T, XM_017008731.2:c.14C>T, XM_017008731.1:c.14C>T, XM_017008730.3:c.14C>T, XM_017008730.2:c.14C>T, XM_017008730.1:c.14C>T, XM_017008732.2:c.14C>T, XM_017008732.1:c.14C>T, XM_017008734.2:c.14C>T, XM_017008734.1:c.14C>T, XM_017008728.2:c.59C>T, XM_017008728.1:c.59C>T, XM_047416321.1:c.68C>T, XM_047416320.1:c.68C>T, XM_047416319.1:c.68C>T, XM_047416322.1:c.14C>T, NP_115884.4:p.Thr23Ile, NP_631957.1:p.Thr5Ile, NP_631958.1:p.Thr5Ile, NP_001138932.1:p.Thr23Ile, NP_001138931.1:p.Thr5Ile, XP_016864218.2:p.Thr43Ile, XP_016864220.1:p.Thr5Ile, XP_016864219.1:p.Thr5Ile, XP_016864221.1:p.Thr5Ile, XP_016864223.1:p.Thr5Ile, XP_016864217.1:p.Thr20Ile, XP_047272277.1:p.Thr23Ile, XP_047272276.1:p.Thr23Ile, XP_047272275.1:p.Thr23Ile, XP_047272278.1:p.Thr5Ile

    2.

    rs1484619983 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      4:56655984 (GRCh38)
      4:57522150 (GRCh37)
      Canonical SPDI:
      NC_000004.12:56655983:G:A,NC_000004.12:56655983:G:C
      Gene:
      HOPX (Varview), LOC124900708 (Varview)
      Functional Consequence:
      missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
      HGVS:
      NC_000004.12:g.56655984G>A, NC_000004.12:g.56655984G>C, NC_000004.11:g.57522150G>A, NC_000004.11:g.57522150G>C, NG_050687.1:g.30723C>T, NG_050687.1:g.30723C>G, NM_032495.6:c.71C>T, NM_032495.6:c.71C>G, NM_032495.5:c.71C>T, NM_032495.5:c.71C>G, NM_139211.5:c.17C>T, NM_139211.5:c.17C>G, NM_139211.4:c.17C>T, NM_139211.4:c.17C>G, NM_139212.4:c.17C>T, NM_139212.4:c.17C>G, NM_139212.3:c.17C>T, NM_139212.3:c.17C>G, NM_001145460.2:c.71C>T, NM_001145460.2:c.71C>G, NM_001145460.1:c.71C>T, NM_001145460.1:c.71C>G, NM_001145459.2:c.17C>T, NM_001145459.2:c.17C>G, NM_001145459.1:c.17C>T, NM_001145459.1:c.17C>G, XM_017008729.3:c.131C>T, XM_017008729.3:c.131C>G, XM_017008729.2:c.131C>T, XM_017008729.2:c.131C>G, XM_017008729.1:c.17C>T, XM_017008729.1:c.17C>G, XM_017008731.3:c.17C>T, XM_017008731.3:c.17C>G, XM_017008731.2:c.17C>T, XM_017008731.2:c.17C>G, XM_017008731.1:c.17C>T, XM_017008731.1:c.17C>G, XM_017008730.3:c.17C>T, XM_017008730.3:c.17C>G, XM_017008730.2:c.17C>T, XM_017008730.2:c.17C>G, XM_017008730.1:c.17C>T, XM_017008730.1:c.17C>G, XM_017008732.2:c.17C>T, XM_017008732.2:c.17C>G, XM_017008732.1:c.17C>T, XM_017008732.1:c.17C>G, XM_017008734.2:c.17C>T, XM_017008734.2:c.17C>G, XM_017008734.1:c.17C>T, XM_017008734.1:c.17C>G, XM_017008728.2:c.62C>T, XM_017008728.2:c.62C>G, XM_017008728.1:c.62C>T, XM_017008728.1:c.62C>G, XM_047416321.1:c.71C>T, XM_047416321.1:c.71C>G, XM_047416320.1:c.71C>T, XM_047416320.1:c.71C>G, XM_047416319.1:c.71C>T, XM_047416319.1:c.71C>G, XM_047416322.1:c.17C>T, XM_047416322.1:c.17C>G, NP_115884.4:p.Ala24Val, NP_115884.4:p.Ala24Gly, NP_631957.1:p.Ala6Val, NP_631957.1:p.Ala6Gly, NP_631958.1:p.Ala6Val, NP_631958.1:p.Ala6Gly, NP_001138932.1:p.Ala24Val, NP_001138932.1:p.Ala24Gly, NP_001138931.1:p.Ala6Val, NP_001138931.1:p.Ala6Gly, XP_016864218.2:p.Ala44Val, XP_016864218.2:p.Ala44Gly, XP_016864220.1:p.Ala6Val, XP_016864220.1:p.Ala6Gly, XP_016864219.1:p.Ala6Val, XP_016864219.1:p.Ala6Gly, XP_016864221.1:p.Ala6Val, XP_016864221.1:p.Ala6Gly, XP_016864223.1:p.Ala6Val, XP_016864223.1:p.Ala6Gly, XP_016864217.1:p.Ala21Val, XP_016864217.1:p.Ala21Gly, XP_047272277.1:p.Ala24Val, XP_047272277.1:p.Ala24Gly, XP_047272276.1:p.Ala24Val, XP_047272276.1:p.Ala24Gly, XP_047272275.1:p.Ala24Val, XP_047272275.1:p.Ala24Gly, XP_047272278.1:p.Ala6Val, XP_047272278.1:p.Ala6Gly

      3.

      rs1468889146 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        4:56655861 (GRCh38)
        4:57522027 (GRCh37)
        Canonical SPDI:
        NC_000004.12:56655860:G:A
        Gene:
        HOPX (Varview), LOC124900708 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
        HGVS:
        NC_000004.12:g.56655861G>A, NC_000004.11:g.57522027G>A, NG_050687.1:g.30846C>T, NM_032495.6:c.194C>T, NM_032495.5:c.194C>T, NM_139211.5:c.140C>T, NM_139211.4:c.140C>T, NM_139212.4:c.140C>T, NM_139212.3:c.140C>T, NM_001145460.2:c.194C>T, NM_001145460.1:c.194C>T, NM_001145459.2:c.140C>T, NM_001145459.1:c.140C>T, XM_017008729.3:c.254C>T, XM_017008729.2:c.254C>T, XM_017008729.1:c.140C>T, XM_017008731.3:c.140C>T, XM_017008731.2:c.140C>T, XM_017008731.1:c.140C>T, XM_017008730.3:c.140C>T, XM_017008730.2:c.140C>T, XM_017008730.1:c.140C>T, XM_017008732.2:c.140C>T, XM_017008732.1:c.140C>T, XM_017008734.2:c.140C>T, XM_017008734.1:c.140C>T, XM_017008728.2:c.185C>T, XM_017008728.1:c.185C>T, XM_047416321.1:c.194C>T, XM_047416320.1:c.194C>T, XM_047416319.1:c.194C>T, XM_047416322.1:c.140C>T, NP_115884.4:p.Thr65Ile, NP_631957.1:p.Thr47Ile, NP_631958.1:p.Thr47Ile, NP_001138932.1:p.Thr65Ile, NP_001138931.1:p.Thr47Ile, XP_016864218.2:p.Thr85Ile, XP_016864220.1:p.Thr47Ile, XP_016864219.1:p.Thr47Ile, XP_016864221.1:p.Thr47Ile, XP_016864223.1:p.Thr47Ile, XP_016864217.1:p.Thr62Ile, XP_047272277.1:p.Thr65Ile, XP_047272276.1:p.Thr65Ile, XP_047272275.1:p.Thr65Ile, XP_047272278.1:p.Thr47Ile

        4.

        rs1468464870 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          4:56648771 (GRCh38)
          4:57514937 (GRCh37)
          Canonical SPDI:
          NC_000004.12:56648770:C:G
          Gene:
          HOPX (Varview)
          Functional Consequence:
          3_prime_UTR_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000008/2 (TOPMED)
          HGVS:
          NC_000004.12:g.56648771C>G, NC_000004.11:g.57514937C>G, NG_050687.1:g.37936G>C, NM_032495.6:c.225G>C, NM_032495.5:c.225G>C, NM_139211.5:c.171G>C, NM_139211.4:c.171G>C, NM_139212.4:c.171G>C, NM_139212.3:c.171G>C, NM_001145460.2:c.*16G>C, NM_001145460.1:c.*16G>C, NM_001145459.2:c.171G>C, NM_001145459.1:c.171G>C, XM_017008729.3:c.285G>C, XM_017008729.2:c.285G>C, XM_017008729.1:c.171G>C, XM_017008731.3:c.171G>C, XM_017008731.2:c.171G>C, XM_017008731.1:c.171G>C, XM_017008730.3:c.171G>C, XM_017008730.2:c.171G>C, XM_017008730.1:c.171G>C, XM_017008732.2:c.171G>C, XM_017008732.1:c.171G>C, XM_017008734.2:c.171G>C, XM_017008734.1:c.171G>C, XM_017008728.2:c.216G>C, XM_017008728.1:c.216G>C, XM_047416321.1:c.225G>C, XM_047416320.1:c.225G>C, XM_047416319.1:c.225G>C, XM_047416322.1:c.171G>C, NP_115884.4:p.Lys75Asn, NP_631957.1:p.Lys57Asn, NP_631958.1:p.Lys57Asn, NP_001138931.1:p.Lys57Asn, XP_016864218.2:p.Lys95Asn, XP_016864220.1:p.Lys57Asn, XP_016864219.1:p.Lys57Asn, XP_016864221.1:p.Lys57Asn, XP_016864223.1:p.Lys57Asn, XP_016864217.1:p.Lys72Asn, XP_047272277.1:p.Lys75Asn, XP_047272276.1:p.Lys75Asn, XP_047272275.1:p.Lys75Asn, XP_047272278.1:p.Lys57Asn

          5.

          rs1466197935 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            4:56655925 (GRCh38)
            4:57522091 (GRCh37)
            Canonical SPDI:
            NC_000004.12:56655924:T:C
            Gene:
            HOPX (Varview), LOC124900708 (Varview)
            Functional Consequence:
            upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000004.12:g.56655925T>C, NC_000004.11:g.57522091T>C, NG_050687.1:g.30782A>G, NM_032495.6:c.130A>G, NM_032495.5:c.130A>G, NM_139211.5:c.76A>G, NM_139211.4:c.76A>G, NM_139212.4:c.76A>G, NM_139212.3:c.76A>G, NM_001145460.2:c.130A>G, NM_001145460.1:c.130A>G, NM_001145459.2:c.76A>G, NM_001145459.1:c.76A>G, XM_017008729.3:c.190A>G, XM_017008729.2:c.190A>G, XM_017008729.1:c.76A>G, XM_017008731.3:c.76A>G, XM_017008731.2:c.76A>G, XM_017008731.1:c.76A>G, XM_017008730.3:c.76A>G, XM_017008730.2:c.76A>G, XM_017008730.1:c.76A>G, XM_017008732.2:c.76A>G, XM_017008732.1:c.76A>G, XM_017008734.2:c.76A>G, XM_017008734.1:c.76A>G, XM_017008728.2:c.121A>G, XM_017008728.1:c.121A>G, XM_047416321.1:c.130A>G, XM_047416320.1:c.130A>G, XM_047416319.1:c.130A>G, XM_047416322.1:c.76A>G, NP_115884.4:p.Lys44Glu, NP_631957.1:p.Lys26Glu, NP_631958.1:p.Lys26Glu, NP_001138932.1:p.Lys44Glu, NP_001138931.1:p.Lys26Glu, XP_016864218.2:p.Lys64Glu, XP_016864220.1:p.Lys26Glu, XP_016864219.1:p.Lys26Glu, XP_016864221.1:p.Lys26Glu, XP_016864223.1:p.Lys26Glu, XP_016864217.1:p.Lys41Glu, XP_047272277.1:p.Lys44Glu, XP_047272276.1:p.Lys44Glu, XP_047272275.1:p.Lys44Glu, XP_047272278.1:p.Lys26Glu

            6.

            rs1462257005 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              4:56655895 (GRCh38)
              4:57522061 (GRCh37)
              Canonical SPDI:
              NC_000004.12:56655894:T:A
              Gene:
              HOPX (Varview), LOC124900708 (Varview)
              Functional Consequence:
              upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000015/4 (TOPMED)
              HGVS:
              NC_000004.12:g.56655895T>A, NC_000004.11:g.57522061T>A, NG_050687.1:g.30812A>T, NM_032495.6:c.160A>T, NM_032495.5:c.160A>T, NM_139211.5:c.106A>T, NM_139211.4:c.106A>T, NM_139212.4:c.106A>T, NM_139212.3:c.106A>T, NM_001145460.2:c.160A>T, NM_001145460.1:c.160A>T, NM_001145459.2:c.106A>T, NM_001145459.1:c.106A>T, XM_017008729.3:c.220A>T, XM_017008729.2:c.220A>T, XM_017008729.1:c.106A>T, XM_017008731.3:c.106A>T, XM_017008731.2:c.106A>T, XM_017008731.1:c.106A>T, XM_017008730.3:c.106A>T, XM_017008730.2:c.106A>T, XM_017008730.1:c.106A>T, XM_017008732.2:c.106A>T, XM_017008732.1:c.106A>T, XM_017008734.2:c.106A>T, XM_017008734.1:c.106A>T, XM_017008728.2:c.151A>T, XM_017008728.1:c.151A>T, XM_047416321.1:c.160A>T, XM_047416320.1:c.160A>T, XM_047416319.1:c.160A>T, XM_047416322.1:c.106A>T, NP_115884.4:p.Ile54Phe, NP_631957.1:p.Ile36Phe, NP_631958.1:p.Ile36Phe, NP_001138932.1:p.Ile54Phe, NP_001138931.1:p.Ile36Phe, XP_016864218.2:p.Ile74Phe, XP_016864220.1:p.Ile36Phe, XP_016864219.1:p.Ile36Phe, XP_016864221.1:p.Ile36Phe, XP_016864223.1:p.Ile36Phe, XP_016864217.1:p.Ile51Phe, XP_047272277.1:p.Ile54Phe, XP_047272276.1:p.Ile54Phe, XP_047272275.1:p.Ile54Phe, XP_047272278.1:p.Ile36Phe

              7.

              rs1455784294 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                4:56655957 (GRCh38)
                4:57522123 (GRCh37)
                Canonical SPDI:
                NC_000004.12:56655956:T:G
                Gene:
                HOPX (Varview), LOC124900708 (Varview)
                Functional Consequence:
                upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000004.12:g.56655957T>G, NC_000004.11:g.57522123T>G, NG_050687.1:g.30750A>C, NM_032495.6:c.98A>C, NM_032495.5:c.98A>C, NM_139211.5:c.44A>C, NM_139211.4:c.44A>C, NM_139212.4:c.44A>C, NM_139212.3:c.44A>C, NM_001145460.2:c.98A>C, NM_001145460.1:c.98A>C, NM_001145459.2:c.44A>C, NM_001145459.1:c.44A>C, XM_017008729.3:c.158A>C, XM_017008729.2:c.158A>C, XM_017008729.1:c.44A>C, XM_017008731.3:c.44A>C, XM_017008731.2:c.44A>C, XM_017008731.1:c.44A>C, XM_017008730.3:c.44A>C, XM_017008730.2:c.44A>C, XM_017008730.1:c.44A>C, XM_017008732.2:c.44A>C, XM_017008732.1:c.44A>C, XM_017008734.2:c.44A>C, XM_017008734.1:c.44A>C, XM_017008728.2:c.89A>C, XM_017008728.1:c.89A>C, XM_047416321.1:c.98A>C, XM_047416320.1:c.98A>C, XM_047416319.1:c.98A>C, XM_047416322.1:c.44A>C, NP_115884.4:p.Glu33Ala, NP_631957.1:p.Glu15Ala, NP_631958.1:p.Glu15Ala, NP_001138932.1:p.Glu33Ala, NP_001138931.1:p.Glu15Ala, XP_016864218.2:p.Glu53Ala, XP_016864220.1:p.Glu15Ala, XP_016864219.1:p.Glu15Ala, XP_016864221.1:p.Glu15Ala, XP_016864223.1:p.Glu15Ala, XP_016864217.1:p.Glu30Ala, XP_047272277.1:p.Glu33Ala, XP_047272276.1:p.Glu33Ala, XP_047272275.1:p.Glu33Ala, XP_047272278.1:p.Glu15Ala

                8.

                rs1450804833 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  4:56655870 (GRCh38)
                  4:57522036 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:56655869:T:C
                  Gene:
                  HOPX (Varview), LOC124900708 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000007/1 (GnomAD)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000004.12:g.56655870T>C, NC_000004.11:g.57522036T>C, NG_050687.1:g.30837A>G, NM_032495.6:c.185A>G, NM_032495.5:c.185A>G, NM_139211.5:c.131A>G, NM_139211.4:c.131A>G, NM_139212.4:c.131A>G, NM_139212.3:c.131A>G, NM_001145460.2:c.185A>G, NM_001145460.1:c.185A>G, NM_001145459.2:c.131A>G, NM_001145459.1:c.131A>G, XM_017008729.3:c.245A>G, XM_017008729.2:c.245A>G, XM_017008729.1:c.131A>G, XM_017008731.3:c.131A>G, XM_017008731.2:c.131A>G, XM_017008731.1:c.131A>G, XM_017008730.3:c.131A>G, XM_017008730.2:c.131A>G, XM_017008730.1:c.131A>G, XM_017008732.2:c.131A>G, XM_017008732.1:c.131A>G, XM_017008734.2:c.131A>G, XM_017008734.1:c.131A>G, XM_017008728.2:c.176A>G, XM_017008728.1:c.176A>G, XM_047416321.1:c.185A>G, XM_047416320.1:c.185A>G, XM_047416319.1:c.185A>G, XM_047416322.1:c.131A>G, NP_115884.4:p.Glu62Gly, NP_631957.1:p.Glu44Gly, NP_631958.1:p.Glu44Gly, NP_001138932.1:p.Glu62Gly, NP_001138931.1:p.Glu44Gly, XP_016864218.2:p.Glu82Gly, XP_016864220.1:p.Glu44Gly, XP_016864219.1:p.Glu44Gly, XP_016864221.1:p.Glu44Gly, XP_016864223.1:p.Glu44Gly, XP_016864217.1:p.Glu59Gly, XP_047272277.1:p.Glu62Gly, XP_047272276.1:p.Glu62Gly, XP_047272275.1:p.Glu62Gly, XP_047272278.1:p.Glu44Gly

                  9.

                  rs1442134514 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    4:56655960 (GRCh38)
                    4:57522126 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:56655959:A:C,NC_000004.12:56655959:A:G
                    Gene:
                    HOPX (Varview), LOC124900708 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000004.12:g.56655960A>C, NC_000004.12:g.56655960A>G, NC_000004.11:g.57522126A>C, NC_000004.11:g.57522126A>G, NG_050687.1:g.30747T>G, NG_050687.1:g.30747T>C, NM_032495.6:c.95T>G, NM_032495.6:c.95T>C, NM_032495.5:c.95T>G, NM_032495.5:c.95T>C, NM_139211.5:c.41T>G, NM_139211.5:c.41T>C, NM_139211.4:c.41T>G, NM_139211.4:c.41T>C, NM_139212.4:c.41T>G, NM_139212.4:c.41T>C, NM_139212.3:c.41T>G, NM_139212.3:c.41T>C, NM_001145460.2:c.95T>G, NM_001145460.2:c.95T>C, NM_001145460.1:c.95T>G, NM_001145460.1:c.95T>C, NM_001145459.2:c.41T>G, NM_001145459.2:c.41T>C, NM_001145459.1:c.41T>G, NM_001145459.1:c.41T>C, XM_017008729.3:c.155T>G, XM_017008729.3:c.155T>C, XM_017008729.2:c.155T>G, XM_017008729.2:c.155T>C, XM_017008729.1:c.41T>G, XM_017008729.1:c.41T>C, XM_017008731.3:c.41T>G, XM_017008731.3:c.41T>C, XM_017008731.2:c.41T>G, XM_017008731.2:c.41T>C, XM_017008731.1:c.41T>G, XM_017008731.1:c.41T>C, XM_017008730.3:c.41T>G, XM_017008730.3:c.41T>C, XM_017008730.2:c.41T>G, XM_017008730.2:c.41T>C, XM_017008730.1:c.41T>G, XM_017008730.1:c.41T>C, XM_017008732.2:c.41T>G, XM_017008732.2:c.41T>C, XM_017008732.1:c.41T>G, XM_017008732.1:c.41T>C, XM_017008734.2:c.41T>G, XM_017008734.2:c.41T>C, XM_017008734.1:c.41T>G, XM_017008734.1:c.41T>C, XM_017008728.2:c.86T>G, XM_017008728.2:c.86T>C, XM_017008728.1:c.86T>G, XM_017008728.1:c.86T>C, XM_047416321.1:c.95T>G, XM_047416321.1:c.95T>C, XM_047416320.1:c.95T>G, XM_047416320.1:c.95T>C, XM_047416319.1:c.95T>G, XM_047416319.1:c.95T>C, XM_047416322.1:c.41T>G, XM_047416322.1:c.41T>C, NP_115884.4:p.Val32Gly, NP_115884.4:p.Val32Ala, NP_631957.1:p.Val14Gly, NP_631957.1:p.Val14Ala, NP_631958.1:p.Val14Gly, NP_631958.1:p.Val14Ala, NP_001138932.1:p.Val32Gly, NP_001138932.1:p.Val32Ala, NP_001138931.1:p.Val14Gly, NP_001138931.1:p.Val14Ala, XP_016864218.2:p.Val52Gly, XP_016864218.2:p.Val52Ala, XP_016864220.1:p.Val14Gly, XP_016864220.1:p.Val14Ala, XP_016864219.1:p.Val14Gly, XP_016864219.1:p.Val14Ala, XP_016864221.1:p.Val14Gly, XP_016864221.1:p.Val14Ala, XP_016864223.1:p.Val14Gly, XP_016864223.1:p.Val14Ala, XP_016864217.1:p.Val29Gly, XP_016864217.1:p.Val29Ala, XP_047272277.1:p.Val32Gly, XP_047272277.1:p.Val32Ala, XP_047272276.1:p.Val32Gly, XP_047272276.1:p.Val32Ala, XP_047272275.1:p.Val32Gly, XP_047272275.1:p.Val32Ala, XP_047272278.1:p.Val14Gly, XP_047272278.1:p.Val14Ala

                    10.

                    rs1436757077 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      4:56655934 (GRCh38)
                      4:57522100 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:56655933:T:C
                      Gene:
                      HOPX (Varview), LOC124900708 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000021/3 (GnomAD)
                      HGVS:
                      NC_000004.12:g.56655934T>C, NC_000004.11:g.57522100T>C, NG_050687.1:g.30773A>G, NM_032495.6:c.121A>G, NM_032495.5:c.121A>G, NM_139211.5:c.67A>G, NM_139211.4:c.67A>G, NM_139212.4:c.67A>G, NM_139212.3:c.67A>G, NM_001145460.2:c.121A>G, NM_001145460.1:c.121A>G, NM_001145459.2:c.67A>G, NM_001145459.1:c.67A>G, XM_017008729.3:c.181A>G, XM_017008729.2:c.181A>G, XM_017008729.1:c.67A>G, XM_017008731.3:c.67A>G, XM_017008731.2:c.67A>G, XM_017008731.1:c.67A>G, XM_017008730.3:c.67A>G, XM_017008730.2:c.67A>G, XM_017008730.1:c.67A>G, XM_017008732.2:c.67A>G, XM_017008732.1:c.67A>G, XM_017008734.2:c.67A>G, XM_017008734.1:c.67A>G, XM_017008728.2:c.112A>G, XM_017008728.1:c.112A>G, XM_047416321.1:c.121A>G, XM_047416320.1:c.121A>G, XM_047416319.1:c.121A>G, XM_047416322.1:c.67A>G, NP_115884.4:p.Lys41Glu, NP_631957.1:p.Lys23Glu, NP_631958.1:p.Lys23Glu, NP_001138932.1:p.Lys41Glu, NP_001138931.1:p.Lys23Glu, XP_016864218.2:p.Lys61Glu, XP_016864220.1:p.Lys23Glu, XP_016864219.1:p.Lys23Glu, XP_016864221.1:p.Lys23Glu, XP_016864223.1:p.Lys23Glu, XP_016864217.1:p.Lys38Glu, XP_047272277.1:p.Lys41Glu, XP_047272276.1:p.Lys41Glu, XP_047272275.1:p.Lys41Glu, XP_047272278.1:p.Lys23Glu

                      11.

                      rs1428049691 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->ACAG [Show Flanks]
                        Chromosome:
                        4:56655889 (GRCh38)
                        4:57522056 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:56655889::ACAG
                        Gene:
                        HOPX (Varview), LOC124900708 (Varview)
                        Functional Consequence:
                        frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        ACAG=0./0 (ALFA)
                        ACAG=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000004.12:g.56655889_56655890insACAG, NC_000004.11:g.57522055_57522056insACAG, NG_050687.1:g.30817_30818insCTGT, NM_032495.6:c.165_166insCTGT, NM_032495.5:c.165_166insCTGT, NM_139211.5:c.111_112insCTGT, NM_139211.4:c.111_112insCTGT, NM_139212.4:c.111_112insCTGT, NM_139212.3:c.111_112insCTGT, NM_001145460.2:c.165_166insCTGT, NM_001145460.1:c.165_166insCTGT, NM_001145459.2:c.111_112insCTGT, NM_001145459.1:c.111_112insCTGT, XM_017008729.3:c.225_226insCTGT, XM_017008729.2:c.225_226insCTGT, XM_017008729.1:c.111_112insCTGT, XM_017008731.3:c.111_112insCTGT, XM_017008731.2:c.111_112insCTGT, XM_017008731.1:c.111_112insCTGT, XM_017008730.3:c.111_112insCTGT, XM_017008730.2:c.111_112insCTGT, XM_017008730.1:c.111_112insCTGT, XM_017008732.2:c.111_112insCTGT, XM_017008732.1:c.111_112insCTGT, XM_017008734.2:c.111_112insCTGT, XM_017008734.1:c.111_112insCTGT, XM_017008728.2:c.156_157insCTGT, XM_017008728.1:c.156_157insCTGT, XM_047416321.1:c.165_166insCTGT, XM_047416320.1:c.165_166insCTGT, XM_047416319.1:c.165_166insCTGT, XM_047416322.1:c.111_112insCTGT, NP_115884.4:p.Ala56fs, NP_631957.1:p.Ala38fs, NP_631958.1:p.Ala38fs, NP_001138932.1:p.Ala56fs, NP_001138931.1:p.Ala38fs, XP_016864218.2:p.Ala76fs, XP_016864220.1:p.Ala38fs, XP_016864219.1:p.Ala38fs, XP_016864221.1:p.Ala38fs, XP_016864223.1:p.Ala38fs, XP_016864217.1:p.Ala53fs, XP_047272277.1:p.Ala56fs, XP_047272276.1:p.Ala56fs, XP_047272275.1:p.Ala56fs, XP_047272278.1:p.Ala38fs

                        12.

                        rs1416102505 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          4:56655996 (GRCh38)
                          4:57522162 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:56655995:G:A,NC_000004.12:56655995:G:T
                          Gene:
                          HOPX (Varview), LOC124900708 (Varview)
                          Functional Consequence:
                          missense_variant,stop_gained,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000021/3 (GnomAD)
                          HGVS:
                          NC_000004.12:g.56655996G>A, NC_000004.12:g.56655996G>T, NC_000004.11:g.57522162G>A, NC_000004.11:g.57522162G>T, NG_050687.1:g.30711C>T, NG_050687.1:g.30711C>A, NM_032495.6:c.59C>T, NM_032495.6:c.59C>A, NM_032495.5:c.59C>T, NM_032495.5:c.59C>A, NM_139211.5:c.5C>T, NM_139211.5:c.5C>A, NM_139211.4:c.5C>T, NM_139211.4:c.5C>A, NM_139212.4:c.5C>T, NM_139212.4:c.5C>A, NM_139212.3:c.5C>T, NM_139212.3:c.5C>A, NM_001145460.2:c.59C>T, NM_001145460.2:c.59C>A, NM_001145460.1:c.59C>T, NM_001145460.1:c.59C>A, NM_001145459.2:c.5C>T, NM_001145459.2:c.5C>A, NM_001145459.1:c.5C>T, NM_001145459.1:c.5C>A, XM_017008729.3:c.119C>T, XM_017008729.3:c.119C>A, XM_017008729.2:c.119C>T, XM_017008729.2:c.119C>A, XM_017008729.1:c.5C>T, XM_017008729.1:c.5C>A, XM_017008731.3:c.5C>T, XM_017008731.3:c.5C>A, XM_017008731.2:c.5C>T, XM_017008731.2:c.5C>A, XM_017008731.1:c.5C>T, XM_017008731.1:c.5C>A, XM_017008730.3:c.5C>T, XM_017008730.3:c.5C>A, XM_017008730.2:c.5C>T, XM_017008730.2:c.5C>A, XM_017008730.1:c.5C>T, XM_017008730.1:c.5C>A, XM_017008732.2:c.5C>T, XM_017008732.2:c.5C>A, XM_017008732.1:c.5C>T, XM_017008732.1:c.5C>A, XM_017008734.2:c.5C>T, XM_017008734.2:c.5C>A, XM_017008734.1:c.5C>T, XM_017008734.1:c.5C>A, XM_017008728.2:c.50C>T, XM_017008728.2:c.50C>A, XM_017008728.1:c.50C>T, XM_017008728.1:c.50C>A, XM_047416321.1:c.59C>T, XM_047416321.1:c.59C>A, XM_047416320.1:c.59C>T, XM_047416320.1:c.59C>A, XM_047416319.1:c.59C>T, XM_047416319.1:c.59C>A, XM_047416322.1:c.5C>T, XM_047416322.1:c.5C>A, NP_115884.4:p.Ser20Leu, NP_115884.4:p.Ser20Ter, NP_631957.1:p.Ser2Leu, NP_631957.1:p.Ser2Ter, NP_631958.1:p.Ser2Leu, NP_631958.1:p.Ser2Ter, NP_001138932.1:p.Ser20Leu, NP_001138932.1:p.Ser20Ter, NP_001138931.1:p.Ser2Leu, NP_001138931.1:p.Ser2Ter, XP_016864218.2:p.Ser40Leu, XP_016864218.2:p.Ser40Ter, XP_016864220.1:p.Ser2Leu, XP_016864220.1:p.Ser2Ter, XP_016864219.1:p.Ser2Leu, XP_016864219.1:p.Ser2Ter, XP_016864221.1:p.Ser2Leu, XP_016864221.1:p.Ser2Ter, XP_016864223.1:p.Ser2Leu, XP_016864223.1:p.Ser2Ter, XP_016864217.1:p.Ser17Leu, XP_016864217.1:p.Ser17Ter, XP_047272277.1:p.Ser20Leu, XP_047272277.1:p.Ser20Ter, XP_047272276.1:p.Ser20Leu, XP_047272276.1:p.Ser20Ter, XP_047272275.1:p.Ser20Leu, XP_047272275.1:p.Ser20Ter, XP_047272278.1:p.Ser2Leu, XP_047272278.1:p.Ser2Ter

                          13.

                          rs1397303015 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            4:56655962 (GRCh38)
                            4:57522128 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:56655961:C:T
                            Gene:
                            HOPX (Varview), LOC124900708 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1397104135 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              4:56655889 (GRCh38)
                              4:57522055 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:56655888:C:A
                              Gene:
                              HOPX (Varview), LOC124900708 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000004.12:g.56655889C>A, NC_000004.11:g.57522055C>A, NG_050687.1:g.30818G>T, NM_032495.6:c.166G>T, NM_032495.5:c.166G>T, NM_139211.5:c.112G>T, NM_139211.4:c.112G>T, NM_139212.4:c.112G>T, NM_139212.3:c.112G>T, NM_001145460.2:c.166G>T, NM_001145460.1:c.166G>T, NM_001145459.2:c.112G>T, NM_001145459.1:c.112G>T, XM_017008729.3:c.226G>T, XM_017008729.2:c.226G>T, XM_017008729.1:c.112G>T, XM_017008731.3:c.112G>T, XM_017008731.2:c.112G>T, XM_017008731.1:c.112G>T, XM_017008730.3:c.112G>T, XM_017008730.2:c.112G>T, XM_017008730.1:c.112G>T, XM_017008732.2:c.112G>T, XM_017008732.1:c.112G>T, XM_017008734.2:c.112G>T, XM_017008734.1:c.112G>T, XM_017008728.2:c.157G>T, XM_017008728.1:c.157G>T, XM_047416321.1:c.166G>T, XM_047416320.1:c.166G>T, XM_047416319.1:c.166G>T, XM_047416322.1:c.112G>T, NP_115884.4:p.Ala56Ser, NP_631957.1:p.Ala38Ser, NP_631958.1:p.Ala38Ser, NP_001138932.1:p.Ala56Ser, NP_001138931.1:p.Ala38Ser, XP_016864218.2:p.Ala76Ser, XP_016864220.1:p.Ala38Ser, XP_016864219.1:p.Ala38Ser, XP_016864221.1:p.Ala38Ser, XP_016864223.1:p.Ala38Ser, XP_016864217.1:p.Ala53Ser, XP_047272277.1:p.Ala56Ser, XP_047272276.1:p.Ala56Ser, XP_047272275.1:p.Ala56Ser, XP_047272278.1:p.Ala38Ser

                              15.

                              rs1394725986 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,T [Show Flanks]
                                Chromosome:
                                4:56655979 (GRCh38)
                                4:57522145 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:56655978:C:A,NC_000004.12:56655978:C:T
                                Gene:
                                HOPX (Varview), LOC124900708 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                A=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000004.12:g.56655979C>A, NC_000004.12:g.56655979C>T, NC_000004.11:g.57522145C>A, NC_000004.11:g.57522145C>T, NG_050687.1:g.30728G>T, NG_050687.1:g.30728G>A, NM_032495.6:c.76G>T, NM_032495.6:c.76G>A, NM_032495.5:c.76G>T, NM_032495.5:c.76G>A, NM_139211.5:c.22G>T, NM_139211.5:c.22G>A, NM_139211.4:c.22G>T, NM_139211.4:c.22G>A, NM_139212.4:c.22G>T, NM_139212.4:c.22G>A, NM_139212.3:c.22G>T, NM_139212.3:c.22G>A, NM_001145460.2:c.76G>T, NM_001145460.2:c.76G>A, NM_001145460.1:c.76G>T, NM_001145460.1:c.76G>A, NM_001145459.2:c.22G>T, NM_001145459.2:c.22G>A, NM_001145459.1:c.22G>T, NM_001145459.1:c.22G>A, XM_017008729.3:c.136G>T, XM_017008729.3:c.136G>A, XM_017008729.2:c.136G>T, XM_017008729.2:c.136G>A, XM_017008729.1:c.22G>T, XM_017008729.1:c.22G>A, XM_017008731.3:c.22G>T, XM_017008731.3:c.22G>A, XM_017008731.2:c.22G>T, XM_017008731.2:c.22G>A, XM_017008731.1:c.22G>T, XM_017008731.1:c.22G>A, XM_017008730.3:c.22G>T, XM_017008730.3:c.22G>A, XM_017008730.2:c.22G>T, XM_017008730.2:c.22G>A, XM_017008730.1:c.22G>T, XM_017008730.1:c.22G>A, XM_017008732.2:c.22G>T, XM_017008732.2:c.22G>A, XM_017008732.1:c.22G>T, XM_017008732.1:c.22G>A, XM_017008734.2:c.22G>T, XM_017008734.2:c.22G>A, XM_017008734.1:c.22G>T, XM_017008734.1:c.22G>A, XM_017008728.2:c.67G>T, XM_017008728.2:c.67G>A, XM_017008728.1:c.67G>T, XM_017008728.1:c.67G>A, XM_047416321.1:c.76G>T, XM_047416321.1:c.76G>A, XM_047416320.1:c.76G>T, XM_047416320.1:c.76G>A, XM_047416319.1:c.76G>T, XM_047416319.1:c.76G>A, XM_047416322.1:c.22G>T, XM_047416322.1:c.22G>A, NP_115884.4:p.Gly26Cys, NP_115884.4:p.Gly26Ser, NP_631957.1:p.Gly8Cys, NP_631957.1:p.Gly8Ser, NP_631958.1:p.Gly8Cys, NP_631958.1:p.Gly8Ser, NP_001138932.1:p.Gly26Cys, NP_001138932.1:p.Gly26Ser, NP_001138931.1:p.Gly8Cys, NP_001138931.1:p.Gly8Ser, XP_016864218.2:p.Gly46Cys, XP_016864218.2:p.Gly46Ser, XP_016864220.1:p.Gly8Cys, XP_016864220.1:p.Gly8Ser, XP_016864219.1:p.Gly8Cys, XP_016864219.1:p.Gly8Ser, XP_016864221.1:p.Gly8Cys, XP_016864221.1:p.Gly8Ser, XP_016864223.1:p.Gly8Cys, XP_016864223.1:p.Gly8Ser, XP_016864217.1:p.Gly23Cys, XP_016864217.1:p.Gly23Ser, XP_047272277.1:p.Gly26Cys, XP_047272277.1:p.Gly26Ser, XP_047272276.1:p.Gly26Cys, XP_047272276.1:p.Gly26Ser, XP_047272275.1:p.Gly26Cys, XP_047272275.1:p.Gly26Ser, XP_047272278.1:p.Gly8Cys, XP_047272278.1:p.Gly8Ser

                                16.

                                rs1392078027 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  4:56648724 (GRCh38)
                                  4:57514890 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:56648723:T:C
                                  Gene:
                                  HOPX (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000004.12:g.56648724T>C, NC_000004.11:g.57514890T>C, NG_050687.1:g.37983A>G, NM_032495.6:c.272A>G, NM_032495.5:c.272A>G, NM_139211.5:c.218A>G, NM_139211.4:c.218A>G, NM_139212.4:c.218A>G, NM_139212.3:c.218A>G, NM_001145460.2:c.*63A>G, NM_001145460.1:c.*63A>G, NM_001145459.2:c.218A>G, NM_001145459.1:c.218A>G, XM_017008729.3:c.332A>G, XM_017008729.2:c.332A>G, XM_017008729.1:c.218A>G, XM_017008731.3:c.218A>G, XM_017008731.2:c.218A>G, XM_017008731.1:c.218A>G, XM_017008730.3:c.218A>G, XM_017008730.2:c.218A>G, XM_017008730.1:c.218A>G, XM_017008732.2:c.218A>G, XM_017008732.1:c.218A>G, XM_017008734.2:c.218A>G, XM_017008734.1:c.218A>G, XM_017008728.2:c.263A>G, XM_017008728.1:c.263A>G, XM_047416321.1:c.272A>G, XM_047416320.1:c.272A>G, XM_047416319.1:c.272A>G, XM_047416322.1:c.218A>G, NP_115884.4:p.Asp91Gly, NP_631957.1:p.Asp73Gly, NP_631958.1:p.Asp73Gly, NP_001138931.1:p.Asp73Gly, XP_016864218.2:p.Asp111Gly, XP_016864220.1:p.Asp73Gly, XP_016864219.1:p.Asp73Gly, XP_016864221.1:p.Asp73Gly, XP_016864223.1:p.Asp73Gly, XP_016864217.1:p.Asp88Gly, XP_047272277.1:p.Asp91Gly, XP_047272276.1:p.Asp91Gly, XP_047272275.1:p.Asp91Gly, XP_047272278.1:p.Asp73Gly

                                  17.

                                  rs1373658052 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    4:56655969 (GRCh38)
                                    4:57522135 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:56655968:T:G
                                    Gene:
                                    HOPX (Varview), LOC124900708 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000004.12:g.56655969T>G, NC_000004.11:g.57522135T>G, NG_050687.1:g.30738A>C, NM_032495.6:c.86A>C, NM_032495.5:c.86A>C, NM_139211.5:c.32A>C, NM_139211.4:c.32A>C, NM_139212.4:c.32A>C, NM_139212.3:c.32A>C, NM_001145460.2:c.86A>C, NM_001145460.1:c.86A>C, NM_001145459.2:c.32A>C, NM_001145459.1:c.32A>C, XM_017008729.3:c.146A>C, XM_017008729.2:c.146A>C, XM_017008729.1:c.32A>C, XM_017008731.3:c.32A>C, XM_017008731.2:c.32A>C, XM_017008731.1:c.32A>C, XM_017008730.3:c.32A>C, XM_017008730.2:c.32A>C, XM_017008730.1:c.32A>C, XM_017008732.2:c.32A>C, XM_017008732.1:c.32A>C, XM_017008734.2:c.32A>C, XM_017008734.1:c.32A>C, XM_017008728.2:c.77A>C, XM_017008728.1:c.77A>C, XM_047416321.1:c.86A>C, XM_047416320.1:c.86A>C, XM_047416319.1:c.86A>C, XM_047416322.1:c.32A>C, NP_115884.4:p.Glu29Ala, NP_631957.1:p.Glu11Ala, NP_631958.1:p.Glu11Ala, NP_001138932.1:p.Glu29Ala, NP_001138931.1:p.Glu11Ala, XP_016864218.2:p.Glu49Ala, XP_016864220.1:p.Glu11Ala, XP_016864219.1:p.Glu11Ala, XP_016864221.1:p.Glu11Ala, XP_016864223.1:p.Glu11Ala, XP_016864217.1:p.Glu26Ala, XP_047272277.1:p.Glu29Ala, XP_047272276.1:p.Glu29Ala, XP_047272275.1:p.Glu29Ala, XP_047272278.1:p.Glu11Ala

                                    18.

                                    rs1372217431 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      4:56655884 (GRCh38)
                                      4:57522050 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:56655883:C:T
                                      Gene:
                                      HOPX (Varview), LOC124900708 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (GnomAD_exomes)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1370228299 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        4:56648748 (GRCh38)
                                        4:57514914 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:56648747:G:C
                                        Gene:
                                        HOPX (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000056/2 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000004.12:g.56648748G>C, NC_000004.11:g.57514914G>C, NG_050687.1:g.37959C>G, NM_032495.6:c.248C>G, NM_032495.5:c.248C>G, NM_139211.5:c.194C>G, NM_139211.4:c.194C>G, NM_139212.4:c.194C>G, NM_139212.3:c.194C>G, NM_001145460.2:c.*39C>G, NM_001145460.1:c.*39C>G, NM_001145459.2:c.194C>G, NM_001145459.1:c.194C>G, XM_017008729.3:c.308C>G, XM_017008729.2:c.308C>G, XM_017008729.1:c.194C>G, XM_017008731.3:c.194C>G, XM_017008731.2:c.194C>G, XM_017008731.1:c.194C>G, XM_017008730.3:c.194C>G, XM_017008730.2:c.194C>G, XM_017008730.1:c.194C>G, XM_017008732.2:c.194C>G, XM_017008732.1:c.194C>G, XM_017008734.2:c.194C>G, XM_017008734.1:c.194C>G, XM_017008728.2:c.239C>G, XM_017008728.1:c.239C>G, XM_047416321.1:c.248C>G, XM_047416320.1:c.248C>G, XM_047416319.1:c.248C>G, XM_047416322.1:c.194C>G, NP_115884.4:p.Pro83Arg, NP_631957.1:p.Pro65Arg, NP_631958.1:p.Pro65Arg, NP_001138931.1:p.Pro65Arg, XP_016864218.2:p.Pro103Arg, XP_016864220.1:p.Pro65Arg, XP_016864219.1:p.Pro65Arg, XP_016864221.1:p.Pro65Arg, XP_016864223.1:p.Pro65Arg, XP_016864217.1:p.Pro80Arg, XP_047272277.1:p.Pro83Arg, XP_047272276.1:p.Pro83Arg, XP_047272275.1:p.Pro83Arg, XP_047272278.1:p.Pro65Arg

                                        20.

                                        rs1361364940 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          4:56655885 (GRCh38)
                                          4:57522051 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:56655884:T:C
                                          Gene:
                                          HOPX (Varview), LOC124900708 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000007/1 (GnomAD)
                                          C=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000004.12:g.56655885T>C, NC_000004.11:g.57522051T>C, NG_050687.1:g.30822A>G, NM_032495.6:c.170A>G, NM_032495.5:c.170A>G, NM_139211.5:c.116A>G, NM_139211.4:c.116A>G, NM_139212.4:c.116A>G, NM_139212.3:c.116A>G, NM_001145460.2:c.170A>G, NM_001145460.1:c.170A>G, NM_001145459.2:c.116A>G, NM_001145459.1:c.116A>G, XM_017008729.3:c.230A>G, XM_017008729.2:c.230A>G, XM_017008729.1:c.116A>G, XM_017008731.3:c.116A>G, XM_017008731.2:c.116A>G, XM_017008731.1:c.116A>G, XM_017008730.3:c.116A>G, XM_017008730.2:c.116A>G, XM_017008730.1:c.116A>G, XM_017008732.2:c.116A>G, XM_017008732.1:c.116A>G, XM_017008734.2:c.116A>G, XM_017008734.1:c.116A>G, XM_017008728.2:c.161A>G, XM_017008728.1:c.161A>G, XM_047416321.1:c.170A>G, XM_047416320.1:c.170A>G, XM_047416319.1:c.170A>G, XM_047416322.1:c.116A>G, NP_115884.4:p.Glu57Gly, NP_631957.1:p.Glu39Gly, NP_631958.1:p.Glu39Gly, NP_001138932.1:p.Glu57Gly, NP_001138931.1:p.Glu39Gly, XP_016864218.2:p.Glu77Gly, XP_016864220.1:p.Glu39Gly, XP_016864219.1:p.Glu39Gly, XP_016864221.1:p.Glu39Gly, XP_016864223.1:p.Glu39Gly, XP_016864217.1:p.Glu54Gly, XP_047272277.1:p.Glu57Gly, XP_047272276.1:p.Glu57Gly, XP_047272275.1:p.Glu57Gly, XP_047272278.1:p.Glu39Gly

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